ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder. (Record no. 29250432)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 03142 a2201057 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250518015850.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201911s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1537-6605 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1016/j.ajhg.2018.12.007 |
| Source of number or code | doi |
| 040 ## - CATALOGING SOURCE | |
| Original cataloging agency | NLM |
| Language of cataloging | eng |
| Transcribing agency | NLM |
| 100 1# - MAIN ENTRY--PERSONAL NAME | |
| Personal name | Carapito, Raphael |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20191119 |
| 245 00 - TITLE STATEMENT | |
| Title | ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | American journal of human genetics |
| Date of publication, distribution, etc. | 02 2019 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 319-330 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Alleles |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Animals |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Child |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Child, Preschool |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Developmental Disabilities |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Female |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Humans |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Infant |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Intellectual Disability |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Male |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mice |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Point Mutation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Syndrome |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Transcription Factors |
| General subdivision | chemistry |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ivanova, Ekaterina L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Morlon, Aurore |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Meng, Linyan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Molitor, Anne |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Erdmann, Eva |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kieffer, Bruno |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pichot, Angélique |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Naegely, Lydie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kolmer, Aline |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Paul, Nicodème |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hanauer, Antoine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tran Mau-Them, Frédéric |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jean-Marçais, Nolwenn |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hiatt, Susan M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cooper, Gregory M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tvrdik, Tatiana |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Muir, Alison M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dimartino, Clémantine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chopra, Maya |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Amiel, Jeanne |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gordon, Christopher T |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dutreux, Fabien |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Garde, Aurore |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Thauvin-Robinet, Christel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wang, Xia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Leduc, Magalie S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Phillips, Meredith |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Crawford, Heather P |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kukolich, Mary K |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hunt, David |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Harrison, Victoria |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kharbanda, Mira |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Smigiel, Robert |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gold, Nina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hung, Christina Y |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Viskochil, David H |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dugan, Sarah L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bayrak-Toydemir, Pinar |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Joly-Helas, Géraldine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Guerrot, Anne-Marie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Schluth-Bolard, Caroline |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rio, Marlène |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wentzensen, Ingrid M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | McWalter, Kirsty |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Schnur, Rhonda E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lewis, Andrea M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lalani, Seema R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mensah-Bonsu, Noël |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Céraline, Jocelyn |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sun, Zijie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ploski, Rafal |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bacino, Carlos A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mefford, Heather C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Faivre, Laurence |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bodamer, Olaf |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chelly, Jamel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Isidor, Bertrand |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bahram, Seiamak |
| 773 0# - HOST ITEM ENTRY | |
| Title | American journal of human genetics |
| Related parts | vol. 104 |
| -- | no. 2 |
| -- | p. 319-330 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.ajhg.2018.12.007">https://doi.org/10.1016/j.ajhg.2018.12.007</a> |
| Public note | Available from publisher's website |
No items available.